Canonical Allele Identifier: CA10611622
Gene: SCN9A HGNC NCBI
SCN1A-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 331942
ClinVar RCV Id: RCV000261231 RCV000297667 RCV000301763 RCV000346098 RCV000358954 RCV000361680 RCV000396968
dbSNP Id: rs564394161
gnomAD v2: 2-167054383-G-GT
gnomAD v3: 2-166197873-G-GT
gnomAD v4: 2-166197873-G-GT
MyVariant Identifiers: chr2:g.167054384dupT (hg19) chr2:g.167054383_167054384insT (hg19) chr2:g.166197874dupT (hg38) chr2:g.166197873_166197874insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.166197881dup , CM000664.2:g.166197881dup GRCh38
NC_000002.11:g.167054391dup , CM000664.1:g.167054391dup GRCh37
NC_000002.10:g.166762637dup NCBI36
NG_012798.1:g.183114dup , LRG_369:g.183114dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000303354.11:c.*798dup (SCN9A) ENSP00000304748.7:n.*798dup
ENST00000642356.2:c.*798dup (SCN9A) MANE Select ENSP00000495601.1:n.*798dup
ENST00000645907.1:c.*798dup (SCN9A) ENSP00000495983.1:n.*798dup
ENST00000303354.10:c.*798dup (SCN9A) ENSP00000304748.7:n.*798dup
ENST00000409672.5:c.*798dup (SCN9A) ENSP00000386306.1:n.*798dup
NM_002977.3:c.*798dup , LRG_369t1:c.*798dup (SCN9A) NP_002968.1:n.*798dup
NR_110260.1:n.432-1758dup (SCN1A-AS1)
NM_001365536.1:c.*798dup (SCN9A) MANE Select NP_001352465.1:n.*798dup
Search 100 bp 5'
Search 100 bp 3'